I write as an outlet, as two of our children battle cancer, positive for Li-Fraumeni Syndrome. I cannot say how often I have heard the phrase, "I cannot even imagine..." but hope to give a glimpse of what this is like...and to reassure you that it is not all bad, despite the challenges.

Wednesday, May 15, 2013

Angelina Jolie and LFS

Angelina
Jolie made all kinds of news yesterday. I
am not a tabloid reader, and I have been far too busy this week to do more than
a mad dash into the grocery store, where I otherwise might have stumbled across
the latest Hollywood gossip while waiting in line.

But even I, in my nearly Amish status, am aware that
she had a double mastectomy, and breast reconstruction. (My FB page is littered
with breast specialists and geneticists, representing every hospital and cancer
organization that I am "friends" with...and there are many. They are all talking about it.) She
announced this fact in the Op Ed section of the NY Times, giving details of her
family history, her genetics, and the surgical options that she selected,
understanding the implications of the former two.

In my world, which has been electronically expanded to
include folks with LFS from all over the world, such a drastic and radical
decision is not that unusual. I
am acquainted online with many women who, given their family history, devastated by breast cancer, and their LFS status, have taken the same
aggressive and strong preventative position that she has. Many more among them
are contemplating this same measure. I applaud them all. It is fierce, and
beautiful, regardless of common ideas about beauty and femininity.

Angelina Jolie has a genetic predisposition to ovarian
cancer (which her mother suffered with) as well as breast cancer. A BRCA 1 mutation will significantly
increase the likelihood of her developing breast cancer, somewhere between 54
and 87% over the general population, as I understand it (especially in rare disorders, numbers and studies
vary, kind of a lot) and ovarian cancer between 40 and 50%. These are some giant, scary numbers
put in front of anyone. Even if you look only at the low end of that risk, it
is significant. Losing her
mother to ovarian cancer makes this information much less theoretical. Given
her personal experience with it, I suspect that there were some sleepless
nights involved for this poor woman.

There was something in Ms. Jolie's statement that I
read, that suggested to me that the double mastectomy was perhaps not the end
of her medical to do list, but rather, just the beginning. She 'started' with
the higher risk and more complex surgery, which sounds to me like an
oophorectomy might be next, to take care of the ovarian risk. I would love for her to get in line,
right behind me.

I have very recently had my research approved by the
IRB, to determine the extent of the mosaicism of the p53 mutation (LFS) in my
body. It is known that the mutation is at least in my ovaries, and as they have
completed their usefulness (I have four children and am over 40) I believe that
it is time that they go, before they go bad, go rogue,
misbehave...pick your favorite cancer
euphemism.

Then, by this research, we can begin to learn if my
risk is limited to germ cells or if I have a global risk. This is an important bit of
information, not just some idle curiosity about my innards. I need know if I
should be screening, like my children are. It sort of matters. A lot.

I do not want to, in any way, minimize the seriousness
of a BRCA mutation, but LFS is like BRCA...oncrack. While LFS carries a similar elevated risk for breast
cancer, we also face increased risk of brain, lung, adrenal, colon, bone...every
cancer out there is fair game...every cancer out there is our game,
and the odds are higher for us to play in every single one of them. The female LFS carrier has a 90%
chance of developing cancer by 60... Ninety percent. Stew in that for a minute.

The difference with LFS is that there are few risk
reducing measures to be taken. While
BRCA patients can choose to live without breasts or ovaries in order to reduce
cancer risk, (again, not minimizing the difficulty in arriving at such
decision, or in taking such measures) but for LFS, bones and brain cannot be
eliminated proactively. My
kids have parted with a bit of both, but that, naturally, comes after the
oncological fact. We scan,
and we screen. We do what
we can to catch it early, our experience being that a small cancer is more
easily managed than giant throbbing tumors (And we have had both).

So, aside from the red carpet, the international
humanitarian missions, the galas, and waking up to Brad Pitt every day, Angelina
really isn't so different from me. (Ok,
that is snarky). But in truth, if you peel away all of
that, which really doesn't matter to me (except for the humanitarian stuff), she is a
woman who knows that the genetic odds are not treating her kindly, and she
really wants to be there for her 6 kids. She is willing to go to some
extraordinary lengths to take care of herself, so she can do just that. I believe that I can relate to this.

And also, I am sure, because she is a smart woman who
has surrounded herself with some smart doctors, she is thinking about whether
to test some of her children. Certainly, her love for them does not take into
account biology...half of her children are adopted, I believe. But while her love is blind to
personal genetics, in this case, the biology does in fact matter.

And I can certainly attest to the angst that comes
with wondering if you unknowingly gave your child the crappiest gift ever...and wondering if should you find out? And
what would you do about it, once you did find out? My prayer for her, or anyone
who decides to test their children, is that they have the reassurance of a
negative result. Because, a
positive one brings other difficult decisions...many of them. And worries.

But also, as Angelina Jolie publicly proclaimed and demonstrated, some power. And
that power to act, to decide, even when the choices are tough, that is the
blessing we have in this day and age.

I return to that 90% number for ladies with LFS...and what we
might do to make Lauren's life the fullest, in every way. She has had two cancers by the tender age
of 9...and while we feel that this has been more than enough, the research
indicates that she might not be done. What
will Dan and I do with this information? I will let you know when we decide,
but I can assure you that we have thought about things, been forced to think about things, things that the average parent
of a 5th grader never contemplates, and likely cannot remotely understand.

So, with their giant stage, I am glad that the
Jolie-Pitts have shared some of their story, if only because the public at
large will now have some notion of what genetic predisposition syndromes like BRCA are,
and consequently, might have a better chance of understanding LFS a bit
better.

1 comment:

It's amazing the decisions and ramifications one has to make when stricken with a cancer predisposition. As if cancer isn't bad enough, let's throw something else on top of it! I'm glad you are writing, and I'm glad you are a voice in what I assume is a vast darkness known as LFS and BRCA. God knows someone needs to be a shining light for it!

About Me

Our pediatric cancer adventure was complicated by the discovery of a genetic mutation (Li-Fraumeni Syndrome) which predisposes two of my children to all forms of cancer. While Brent, now 16, battled osteosarcoma (bone cancer), we found that Lauren, now 13, had a rare brain tumor. Since our initial problems in 2011, Brent developed two subsequent cancers (Metastatic melanoma and AML--a leukemia that required bone marrow transplant) and Lauren had a second brain tumor removed.

I share both the challenges and the blessings of this life, pretty freely.